416 research outputs found

    Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

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    We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease

    Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL

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    CADASIL is the most common hereditary cause of repeated ischemic strokes, and has also been identified as a model of pure vascular dementia. The objective of this study was to establish the cognitive performance of asymptomatic carriers with the mutations R1031C and R141C. This observational cross-sectional analytical study divided subjects into three groups: asymptomatic carriers of the R1031C mutation (n = 39), asymptomatic carries of the R141C mutation (n = 8) and non-carriers (n = 50). Statistically significant differences were found (p <0.05) between the group of the R1031C mutation and the non-carriers in constructional praxis, executive function and abstract reasoning. For the R141C mutation, scores below expected values in executive function and mental calculation were observed. It is concluded that asymptomatic carriers of the two mutations showed low performance in working memory, mental abstraction and processing speed, which could be associated with preclinical cognitive biomarkers preceding the presentation of the first vascular event

    Geologising urban political ecology (UPE): the urbanisation of sand in Accra, Ghana

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    This paper makes a call for an urban political ecology (UPE) which engages more extensively with Earth’s geological formations. As a material at the centre of global urbanisation process, sand is offered as a geological entry point. The paper presents an analysis of the urbanisation of sand, or the ways in which sand is brought into the urban realm, grounding this reading in Accra—a growing city on Ghana’s Atlantic coast. Drawing from 14 months of ethnographic fieldwork, the paper charts the socio-natural politics through which sand is first unearthed from the edges of the city—an extractive processes otherwise known as “sand winning” in Ghana. By examining the forms of power which govern uneven revenue flows to communities, the displacement of farming groups, the widespread loss of farmland and a contested regime of governance, the analysis exposes the socio-natural politics through which the city’s geological baseline is first unearthed

    Diálogos sobre transdisciplina: los investigadores y su objeto de estudio

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    A la transdisciplinariedad se le ha definido como “una feliz transgresión de las fronteras entre las disciplinas” y es en este tono en que se presenta esta obra, que recopila las experiencias y reflexiones, las discusiones y propuestas de una veintena de investigadores y académicos que hablan sobre o desde la transdisciplina acerca de los temas de su interés o especialidad. La aproximación se da desde perspectivas académicas diversas y se adereza con expresiones estéticas que van desde la poesía hasta la pintura, a través de las cuales se busca ofrecer un espacio a las rutas posibles y limitaciones connaturales de acceder a la realidad para construir conocimiento “de frontera”, “en las fronteras”. Los abordajes son fruto de la exploración, filiación, encantos y desencantos por parte de los autores con la entidad de su búsqueda, quienes buscan contestar, entre otras, las siguientes cuestiones: ¿Cómo establecer un acercamiento transdisciplinar al objeto de estudio? ¿Qué hace a un objeto de estudio transdisciplinar? ¿Cómo impacta la transdisciplinariedad la identidad del académico? Una obra concebida desde una perspectiva más pedagógica que desde la doxa académica, con el interés de aportar una lectura amena para las reflexiones en torno a la trasgresión de las fronteras disciplinarias.ITESO, A.C

    TRY plant trait database - enhanced coverage and open access

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    Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives
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